期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 112, 期 4, 页码 379-383出版社
WILEY-LISS
DOI: 10.1002/ajmg.10677
关键词
Seckel syndrome; genetic heterogeneity; chromosome 3q22.1-q24; chromosome 18p11.31-q11.2
Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial dwarfism and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition. (C) 2002 Wiley-Liss, Inc.
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